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Items: 29

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
FANCE
(V311fs)
Duplication
(frameshift variant)
not provided
+1 more
GConflicting classifications of pathogenicity
NBN
(K137fs +1 more)
Deletion
(frameshift variant)
Microcephaly
+6 more
GPathogenic
FANCG
Single nucleotide variant
(splice acceptor variant)
Carcinoma of pancreas
GLikely pathogenic
C11orf65, ATM
(R2032K)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GPathogenic/Likely pathogenic
ATM, C11orf65
Deletion
(intron variant)
Ataxia-telangiectasia syndrome
+3 more
GPathogenic/Likely pathogenic
ATM, C11orf65
(R2443*)
Single nucleotide variant
(nonsense +1 more)
Familial cancer of breast
+3 more
GPathogenic/Likely pathogenic
BRCA2
(V159M)
Single nucleotide variant
(missense variant)
Hereditary cancer-predisposing syndrome
+4 more
GPathogenic/Likely pathogenic
BRCA2
(I605fs)
Duplication
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
Deletion
(frameshift variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
Deletion
(nonsense)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(W1692fs)
Duplication
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(C2473fs)
Duplication
(frameshift variant)
Carcinoma of pancreas
GPathogenic
BRCA2
(R2494*)
Single nucleotide variant
(nonsense)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
(D2723H)
Single nucleotide variant
(missense variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
BRCA2
Single nucleotide variant
(splice acceptor variant)
Breast-ovarian cancer, familial, susceptibility to, 2
GPathogenic
ERCC4
(R799W)
Single nucleotide variant
(missense variant)
not provided
+7 more
GConflicting classifications of pathogenicity
PALB2
Deletion
(frameshift variant)
Malignant tumor of breast
+11 more
GPathogenic
TP53
(R142H +3 more)
Single nucleotide variant
(missense variant)
Adrenocortical carcinoma, hereditary
+5 more
GConflicting classifications of pathogenicity
BRCA1, LOC126862571
(E1257fs +21 more)
Microsatellite
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(Q757fs +20 more)
Deletion
(frameshift variant +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
BRCA1
(E755* +20 more)
Single nucleotide variant
(nonsense +1 more)
Breast-ovarian cancer, familial, susceptibility to, 1
GPathogenic
HOXB13
(G84E)
Single nucleotide variant
(missense variant)
Prostate cancer, hereditary, 9
+7 more
GPathogenic/Likely pathogenic; association
BRIP1
Deletion
(nonsense)
Familial ovarian cancer
+5 more
GPathogenic/Likely pathogenic
BRIP1
(C443fs)
Deletion
(frameshift variant)
Carcinoma of pancreas
GPathogenic
POLD1
(R1050fs +1 more)
Deletion
(frameshift variant +1 more)
Carcinoma of pancreas
GPathogenic
CHEK2
(T146fs +4 more)
Deletion
(frameshift variant)
NICE approved PARP inhibitor treatment
+21 more
GPathogenic
CHEK2
Deletion
(splice acceptor variant +1 more)
not provided
GPathogenic
CHEK2
(G306A +3 more)
Single nucleotide variant
(missense variant)
Inherited breast cancer and ovarian cancer
+6 more
GConflicting classifications of pathogenicity
CHEK2
Deletion
(splice donor variant)
Hereditary breast ovarian cancer syndrome
+5 more
GPathogenic/Likely pathogenic
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